Babel Treebank of Public Messages in Croatian

AbstractThe paper presents the process of constructing a publicly available treebank of public messages written in Croatian. The messages were collected from various electronic sources – e-mail, blog, Facebook and SMS – and published on the Zagreb Museum of Contemporary Art LED facade within the Babel art project. The project aimed to use the facade as an open-space blog or social interface for enabling citizens to publicly express their views. Construction and current state of the treebank is presented along with future work plans. A comparison of Babel Treebank with Croatian Dependency Treebank and SETimes.HR treebank regarding differing domains and annotation schemes is briefly sketched. The treebank is used as a test platform for introducing a new standard for syntactic annotation of Croatian texts. An experiment with morphosyntactic tagging and dependency parsing of the treebank is conducted, providing first insight to computational processing of non-standard text in Croatian

Gene mutations in hereditary demyelinating polyneuropathies Charcot-Marie-Tooth type 1 in the population of the Republic of Croatia

Nasljedne polineuropatije, poznate još i kao polineuropatije Charcot-Marie-Tooth (CMT), su genetički heterogena skupina poremećaja perifernih živaca karakterizirana sporo progresivnom slabošću i atrofijom distalnih mišića, povezana s blagim do umjerenim gubitkom osjeta, oslabljenim tetivnim refleksima i tipičnom deformacijom stopala. Najčešći podtipovi su CMT1A, HNPP (nasljedna neuropatija sa sklonošću kljenuti na pritisak), CMTX1 i CMT1B. U ovom radu ispitivana je vrsta i zastupljenost najčešćih mutacija u genima koji sudjeluju u izgradnji mijelinske ovojnice (PMP22, GJB1 i MPZ) u populaciji ispitivanih bolesnika s CMT metodom MLPA i sekvenciranja gena. Utvrđeno je ukupno 13 mutacija u genima PMP22 i GJB1, od kojih je pet bilo novih, dosad neobjavljenih. Utvrđena je slična zastupljenost podtipova CMT u Republici Hrvatskoj kao u drugim europskim zemljama s izuzetkom izostanka mutacija u genu MPZ. Rezultati analize neurografskih parametara ukazuju na razlikovanje demijelinizirajućeg procesa i propadanja aksona kao dva temeljna, no različita patofiziološka mehanizma u nastanku fenotipa CMT1.Hereditary polyneuropathies known as Charcot-Marie-Tooth (CMT) polyneuropathies are genetically heterogeneous group of peripheral nerve disorders characterized by slow progressive weakness and atrophy of distal muscles, associated with mild to moderate sensation loss, weakened tendon reflexes and typical foot deformity. The most common subtypes are CMT1A, HNPP (hereditary neuropathy with liability to pressure palsies), CMTX1 and CMT1B. This research examined the type and frequency of mutations in genes involved in myelin construction (PMP22, GJB1 and MPZ) in CMT1 patients by MLPA and gene sequencing method. A total of 13 mutations in the PMP22 and GJB1 genes were found, of which five were new, unpublished. A similar ratio of CMT subtypes in the Republic of Croatia was found as in other European countries with the exception of absence of MPZ mutations. The results of neurograph parameters analysis indicate the differentiation of the demyelinating process and the axons degeneration as two fundamental but different pathophysiological mechanisms in the occurrence of CMT1 phenotypes

Homocystinuria in adult patients

Klasična homocistinurija je aminoacidopatija prvi put opisana 1962. godine. Nastaje kao posljedica nemogućnosti razgradnje i povećane koncentracije aminokiseline homocisteina u cirkulaciji. Do povećane koncentracije homocisteina u plazmi/serumu i urinu mogu dovesti različiti nasljedni metabolički poremećaji kao i neka stečena stanja. Od nasljednih metaboličkih poremećaja koji dovode do homocisteinemije i homocistinurije najučestalija je autosomno recesivna bolest klasična homocistinurija (McKusick 236200) uzrokovana nedostatkom enzima cistationin beta-sintaze (CBS; EC 4.2.1.22). Ako se ne počne pravodobno liječiti, bolest može dovesti do ozbiljnih komplikacija koje se manifestiraju promjenama na središnjem živčanom sustavu, očima, kostima i krvnim žilama, a poglavito u vidu tromboembolijskih procesa. Novorođenački probir, koji bi prethodio procesu liječenja, ne provodi se u mnogim zemljama, pa tako niti u Republici Hrvatskoj. S postavljanjem dijagnoze u kasnijoj životnoj dobi značajno se kasni zbog nedovoljne osjetljivosti liječnika na postojanje ove bolesti te njenom povezanošću s čitavom lepezom kliničkih simptoma. Bolesnici se dugo upućuju raznim specijalistima koji se posvećuju liječenju pojedinih kliničkih manifestacija, uglavnom bez rezul tata. Bez liječenja osnovne bolesti promjene stalno napreduju. Poseban dijagnostički problem su bolesnici s nedostatkom CBS-a u kojih karakteristična vanjska klinička obilježja nisu prisutna. Homocistein je samo intermitentno povišen, i to u situacijama kad ne uzimaju piridoksin, a najčešće su tromboembolijski događaji jedina manifestacija bolesti. Na osnovi vlastitih iskustava prikazanih u ovom radu, kao i podataka iz dostupne literature, možemo zaključiti da je u bolesnika dječje, adolescentske ili odrasle dobi s visokom ili brzoprogredirajućom miopijom, subluksacijom leća, marfanoidnim izgledom i/ili tromboembolijskim incidentom potrebno izmjeriti koncentraciju homocisteina u plazmi te provesti obiteljski probir.Classical homocystinuria is aminoacidopathy fi rst described in 1962. It results from the inability of degradation and consequential accumulation of the amino acid homocysteine in the circulation. Increased plasma/serum and urine homocysteine levels can be caused by diff erent inherited metabolic disorders or by some acquired conditions. Classical homocystinuria (McKusick 236200) is a pathologic condition that arises from elevated concentrations of homocysteine in the plasma, most frequently due to cystathionine β-synthase defi ciency (CBS; EC 4.2.1.22). If not treated in time, the disease can lead to serious central nervous system, eye, bone and blood vessel complications, mainly thromboembolism. However, newborn screening for homocystinuria is not routinely performed in many countries, including Croatia. In spite of various reasons that may cause delay in the diagnosis of homocystinuria, the predominant one is that physicians often fail to connect a cluster of common symptoms with this rare disease. Patients are referred to various specialists who focus on the treatment of diff erent clinical manifestations of homocystinuria, mostly without success. Without treatment of the underlying disease, chronic complications of homocystinuria progress and patients are jeopardized by sometimes even life-threatening thromboembolism. Patients with CBS defi ciency in whom typical clinical phenotype is absent, represent a particular diagnostic problem, as homocysteine is usually only periodically increased when pyridoxine is omitted from therapy. Within these patients recurrent episodes of thromboembolism are commonly the only clinical feature of homocystinuria. Based on our experience and data from the literature, early recognition of severe or rapidly progressing myopia, subluxation of ocular lenses, ‘marphanoid’ appearance and/or thromboembolism should be an indication for plasma homocysteine measurement and family screening

Are kidney malformations an additional feature of MEN2B syndrome? – Case report and literature review

Sindrom multiple endokrine neoplazije 2B (MEN2B) rijetka je autosomno dominatno nasljedna bolest uzrokovana mutacijama protoonkogena RET. Karakteriziran je pojavom medularnog karcinoma štitnjače već od rane, nerijetko dojenačke dobi, feokromocitoma koji je najčešće obostran, sluzničkim neuromima te drugim ekstraendokrinim manifestacijama i specifičnim fenotipskim značajkama koje mogu pomoći u prepoznavanju ovih bolesnika. Prikazujemo pacijenta sa sindromom MEN2B, dijabetesom melitusom tipa 1, inverznim položajem organa te prirođenim malformacijama bubrega i mokraćnog sustava. Pregledom literature uočeno je da se malformacije mokraćnog sustava opisuju i u drugih bolesnika sa sindromom MEN2B. Prepoznata uloga gena RET u razvoju anomalija mokraćnog sustava čini moguću etiološku poveznicu sa sindromom MEN2B. Predlažemo da se malformacije bubrega razmotre kao jedno od obilježja sindroma MEN2B. Budući da se osobine bolesnika sa sindromom MEN2B postupno razvijaju s dobi, prepoznavanje prirođene mane, uz prve znakove ostalih fenotipskih značajki, moglo bi pomoći ranom postavljanju dijagnoze i liječenju ovih bolesnika.Multiple endocrine neoplasia type 2B (MEN2B) is a rare familial syndrome caused by autosomal dominant mutations in the RET proto-oncogene. The disease is characterized by aggressive, early-onset medullary thyroid carcinoma, pheochromocytoma, most often bilateral, and mucosal neuromas together with other distinctive extra-endocrine manifestations and phenotypic features that can help in recognizing the patients and diagnosing the disease. We present the patient with MEN2B syndrome, type 1 diabetes mellitus, situs inversus and congenital kidney and urinary tract malformation. Reviewing the literature revealed other reports on urinary tract malformations in patients suffering from MEN2B. The recognized role of RET gene in kidney development and urinary tract malformations suggests a possible etiological link with MEN2B syndrome. We suggest that urinary tract malformations might be a feature of MEN2B syndrome. As most of the phenotype characteristics of the syndrome develop with age, recognizing congenital malformation might help in early diagnosing and treating the patients

Cystic Fibrosis – results of CFTR modulators in Croatia

Cistična fibroza najčešća je nasljedna bolest, koja skraćuje životni vijek, a uzrokuje je defekt u genu za transmembranski regulator provodljivosti cistične fibroze (eng. cystic fibrosis transmembrane regulator – CFTR). Poremećena je homeostaza elektrolita, što se očituje simptomima u više organskih sustava. Plućne manifestacije, s kroničnim infekcijama, upalom i, na kraju, respiratornim zatajenjem, ostaju i dalje najvažnija prijetnja životnom vijeku bolesnika. Do prije jednog desetljeća bilo je dostupno samo simptomatsko liječenje. Od 2012. g. dostupno je liječenje tzv. modulatorima CFTR-proteina i njihovim kombinacijama za osobe s cističnom fibrozom koje nose različite varijante CFTR-gena. Pojavom tih lijekova uvelike se promijenila perspektiva i kvaliteta života ljudi s cističnom fibrozom, ali postavljeni i novi izazovi u vezi s dugoročnim komplikacijama, pitanje eventualnog smanjenja konvencionalnog liječenja, ali i financiranja terapije, koja je mnogim bolesnicima nedostupna. Iznesene su bazične spoznaje o cističnoj fibrozi i funkciji CFTR-proteina, klasifikaciji varijanata CFTR-gena, mogućnostima liječenja CFTR-modulatorima te osnovni ishodi liječenja bolesnika s cističnom fibrozom u Hrvatskoj, gdje se ta terapija primjenjuje od jeseni 2021. godine.Cystic fibrosis, the most frequent lifespan shortening hereditary disease in Caucasians, is caused by a defect in the CFTR (cystic fibrosis transmembrane regulator) gene. Disturbed electrolyte homeostasis leads to the development of different symptoms in multiple organs. Pulmonary manifestations with chronic infections and inflammation result in respiratory failure and remain the most important life-shortening factor. Until recently only symptomatic treatment was available. In year 2012. a new treatment approach with small molecules that modulate the CFTR protein was introduced. Different combinations of CFTR modulators are applicable to certain patients carrying different variants of the CFTR gene. CFTR modulators made a huge difference in the quality of life and perspectives of people with cystic fibrosis. At the same time, new challenges emerged regarding long term complications and possible reduction of conventional treatment options, as well as financial issues that are an obstacle to the use of these drugs for many patients. This paper brings basic insight into cystic fibrosis, the function of CFTR protein, the classification of CFTR gene variants and possibilities of treatment with CFTR modulators as well as basic outcomes of CFTR modulators treatment in Croatia, where this therapy was introduced in autumn 2021

Application of derivate spectroscopy in determination of manganese in drinking water in the presence of iron

Kontrola kakvoće vode za piće nužna je zbog zadovoljavanja zakonskih kriterija o ispravnosti vode, kao i zbog uspješne provedbe tehnoloških postupaka pročišćavanja vode za piće. Jedna od skupina pokazatelja ispravnosti vode za piće koju je nužno pratiti je sadržaj pojedinih metala u vodi, među kojima se nalazi i mangan. Za određivanje mangana u vodi za piće razvijene su brojne analitičke metode, od kojih se svojom jednostavnošću ističu spektrofotometrijske metode. Nedostatak većine korištenih spektrofotometrijskih metoda za određivanje mangana je uporaba cijanida kao maskirnog reagensa za sprječavanje interferencije željeza. Cilj ovog rada bio je razviti jednostavnu spektrofotometrijsku metodu određivanja mangana u pitkoj vodi, s posebnim naglaskom na vode koje osim mangana u značajnijoj količini sadrže i željezo. Razvijena je metoda koja se temelji na mjerenju apsorbancije kompleksa između Mn2+ kationa i 4-(2-piridilazo) rezorcinola. Interferirajući efekt željeza izbjegnut je uporabom derivacijske spektrofotometrije, mjerenjem vrijednosti d2A/dλ2 pri 533 nm. Metoda omogućuje simultano određivanje željeza u binarnim smjesama, mjerenjem vrijednosti d2A/dλ2 pri 723 nm uz zadovoljavajuću osjetljivost i preciznost.Quality control of drinking water is essential for meeting the legal criteria of water validity, as well as the successful implementation of technological processes of water purification. One group of indicators of water quality which is necessary to monitor is the content of certain metals, including manganese. For determination of manganese in drinking water there have been developed numerous analytical methods, but spectrophotometric methods stands out for its simplicity. The drawback of most used spectrophotometric method for determination of manganese is the use of cyanide as a masking reagent to prevent interference of iron. The aim of this study was to develop a simple spectrophotometric method for manganese determination in drinking water, with special emphasis on waters that beside significant amount of manganese, contain iron as well. A developed method is based on measuring the absorbance of the complexes between Mn2+ cations and 4-(2-pyridylazo) resorcinol. Iron interference was avoided by using derivative spectrometry and measuring the value of d2A/dλ2 at 533 nm. Simultaneous determination of Fe in binary mixtures with Mn was achieved with satisfactory sensitivity and precision by measuring the value of d2A/dl2 at 273 nm

Is there any association of apolipoprotein E gene polymorphisms with metabolic syndrome in a young population of Croatian origin?

Background: Apolipoprotein E has an important role in lipid metabolism and adipocyte activity and apo E gene (APOE) might serve as a potential determinant of metabolic syndrome (MetS). Aim: The aim of the presented study was to investigate the association between APOE polymorphism and MetS in young adult subjects of Croatian origin. Methods: This study measured biochemical and anthropometric parameters of 149 young (aged 20–33) subjects. The APOE was genotyped by real-time PCR. Results: No APOE genotype significantly increased the risk for development of MetS. Significant association was found between APOE polymorphism and elevated blood pressure (EBP) (p = .019). The carriers of the ɛ4 allele had decreased risk for EBP (OR = 0.28, 95% CI) compared to ɛ3 allele carriers (ɛ3 allele vs others, χ2 = 7.08; p = .005). APOE alleles were significantly associated with the concentration of TC and LDL-C (χ2 = 12.11, p = .002 and χ2 = 15.76, p < .001, respectively). With diet as a modification covariate there was a significant correlation of APOE alleles with the concentrations of adiponectin and leptin (χ2 = 7.076; p = .029 and χ2 = 7.46; p = .024, respectively). Conclusion: Although APOE variants were not confirmed as the risk factor for development of MetS, the APOE alleles were associated with some of the metabolic parameters in young Croatian subjects. The relation of APOE alleles with a concentration of adiponectin and leptin depends on the diet intake

Jesu li bubrežne malformacije jedno od obilježja sindroma MEN2B? – prikaz bolesnika i pregled literature

Sindrom multiple endokrine neoplazije 2B (MEN2B) rijetka je autosomno dominatno nasljedna bolest uzrokovana mutacijama protoonkogena RET. Karakteriziran je pojavom medularnog karcinoma štitnjače već od rane, nerijetko dojenačke dobi, feokromocitoma koji je najčešće obostran, sluzničkim neuromima te drugim ekstraendokrinim manifestacijama i specifičnim fenotipskim značajkama koje mogu pomoći u prepoznavanju ovih bolesnika. Prikazujemo pacijenta sa sindromom MEN2B, dijabetesom melitusom tipa 1, inverznim položajem organa te prirođenim malformacijama bubrega i mokraćnog sustava. Pregledom literature uočeno je da se malformacije mokraćnog sustava opisuju i u drugih bolesnika sa sindromom MEN2B. Prepoznata uloga gena RET u razvoju anomalija mokraćnog sustava čini moguću etiološku poveznicu sa sindromom MEN2B. Predlažemo da se malformacije bubrega razmotre kao jedno od obilježja sindroma MEN2B. Budući da se osobine bolesnika sa sindromom MEN2B postupno razvijaju s dobi, prepoznavanje prirođene mane, uz prve znakove ostalih fenotipskih značajki, moglo bi pomoći ranom postavljanju dijagnoze i liječenju ovih bolesnika